Canonical Allele Identifier: CA371873921

Gene: VPS13B

Linked Data

• dbSNP Id: rs1197636227
• gnomAD v2: 8-100779032-C-T
• gnomAD v4: 8-99766804-C-T
• MyVariant Identifiers: chr8:g.100779032C>T (hg19) ; chr8:g.99766804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766804C>T , CM000670.2:g.99766804C>T	GRCh38
NC_000008.10:g.100779032C>T , CM000670.1:g.100779032C>T	GRCh37
NC_000008.9:g.100848208C>T	NCBI36
NG_007098.2:g.758539C>T , LRG_351:g.758539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7156C>T	ENSP00000507923.1:p.Leu2386Phe
ENST00000682358.1:n.7226C>T
ENST00000683334.1:c.*2838C>T	ENSP00000507369.1:n.*2838C>T
ENST00000357162.7:c.7081C>T MANE Select	ENSP00000349685.2:p.Leu2361Phe
ENST00000358544.7:c.7156C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu2386Phe
ENST00000357162.6:c.7081C>T	ENSP00000349685.2:p.Leu2361Phe
ENST00000358544.6:c.7156C>T	ENSP00000351346.2:p.Leu2386Phe
ENST00000518569.1:n.211C>T
NM_017890.4:c.7156C>T , LRG_351t1:c.7156C>T	NP_060360.3:p.Leu2386Phe
NM_152564.4:c.7081C>T , LRG_351t2:c.7081C>T	NP_689777.3:p.Leu2361Phe
XM_005250800.2:c.7156C>T	XP_005250857.1:p.Leu2386Phe
XM_005250801.3:c.7156C>T	XP_005250858.1:p.Leu2386Phe
XM_011516848.1:c.7153C>T	XP_011515150.1:p.Leu2385Phe
XM_011516849.1:c.7078C>T	XP_011515151.1:p.Leu2360Phe
XM_011516850.1:c.6778C>T	XP_011515152.1:p.Leu2260Phe
XM_011516851.1:c.4042C>T	XP_011515153.1:p.Leu1348Phe
XM_011516852.1:c.4042C>T	XP_011515154.1:p.Leu1348Phe
XM_011516853.1:c.7156C>T	XP_011515155.1:p.Leu2386Phe
XM_011516854.1:c.2935C>T	XP_011515156.1:p.Leu979Phe
XR_928446.1:n.2065+3884G>A
XM_005250800.3:c.7156C>T	XP_005250857.1:p.Leu2386Phe
XM_005250801.5:c.7156C>T	XP_005250858.1:p.Leu2386Phe
XM_011516848.2:c.7153C>T	XP_011515150.1:p.Leu2385Phe
XM_011516849.2:c.7078C>T	XP_011515151.1:p.Leu2360Phe
XM_011516850.2:c.6778C>T	XP_011515152.1:p.Leu2260Phe
XM_011516851.2:c.4042C>T	XP_011515153.1:p.Leu1348Phe
XM_011516852.2:c.4042C>T	XP_011515154.1:p.Leu1348Phe
XM_011516853.2:c.7156C>T	XP_011515155.1:p.Leu2386Phe
XM_011516854.2:c.2935C>T	XP_011515156.1:p.Leu979Phe
XM_017013109.1:c.6961C>T	XP_016868598.1:p.Leu2321Phe
XM_017013111.1:c.4042C>T	XP_016868600.1:p.Leu1348Phe
XM_017013112.1:c.2713C>T	XP_016868601.1:p.Leu905Phe
XM_024447074.1:c.5941C>T	XP_024302842.1:p.Leu1981Phe
NM_017890.5:c.7156C>T MANE Plus Clinical	NP_060360.3:p.Leu2386Phe
NM_152564.5:c.7081C>T MANE Select	NP_689777.3:p.Leu2361Phe